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Article

Gene discovery and prevalence in inherited retinal dystrophies.

Comptes rendus biologies - 1 Mar 2014

Hamel Christian P

Abstract excerpt

Inherited retinal dystrophies are Mendelian neurodegenerative conditions classified as pigmentary retinopathies, macular dystrophies and others. Over a 21-year period, from 1990 to 2011, we have screened in Montpellier 107 genes in 609 families and have identified a causal mutation in 68.5% of them. Following a gene candidate approach, we established that RPE65, the isomerohydrolase of the visual cycle, is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24702842
DOI: 10.1016/j.crvi.2013.12.001

Genes

IMPG1
RPE65

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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